A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1415



Internal ID15545978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96037223..96052429hg38UCSC Ensembl
Outerchr14:96503560..96518766hg19UCSC Ensembl
Outerchr14:95573313..95588519hg18UCSC Ensembl
Outerchr14:95573313..95588519hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg385866
hg195866
hg185866
hg175866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9236
SamplesNA12156
Known GenesC14orf132
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv1415
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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